Sturge-weber syndrome and cerebral vascular av malformation in an african-american adolescent

Retin Cases Brief Rep. 2011 Winter;5(1):82-3. doi: 10.1097/ICB.0b013e3181c33363.

Abstract

Purpose: The purpose of this study was to report the case of a 16-year-old black man who without ocular history or physician-recognized dermatologic signs was found to have Sturge-Weber syndrome.

Methods: Color flow Doppler ultrasound and cerebral vascular imaging showed a child with Sturge-Weber syndrome with a cerebral vascular AV malformation.

Results: Color flow Doppler ultrasound and cerebral vascular imaging showed a total retinal detachment, diffuse choroidal hemangioma, and cerebral vascular AV malformation consistent with the diagnosis of Sturge-Weber syndrome.

Conclusion: This case shows that this child with typical ocular vascular findings of Sturge-Weber syndrome and a cerebral AV malformation did not show recognizable evidence of a port wine stain during several physician examinations because of the child's darkly pigmented skin color.